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| Ataxia and cerebellar anomalies - narrow panel v4.38 | SLC52A2 | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC52A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | SLC52A2 | Eleanor Williams reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | SLC52A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC52A2. Source NHS GMS was added to SLC52A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v3.14 | SLC52A2 |
Achchuthan Shanmugasundram Tag treatable tag was added to gene: SLC52A2. Tag Q4_22_promote_green tag was added to gene: SLC52A2. |
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| Ataxia and cerebellar anomalies - narrow panel v3.14 | SLC52A2 | Achchuthan Shanmugasundram Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867; Cerebellar ataxia, MONDO:0000437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.13 | SLC52A2 | Achchuthan Shanmugasundram Publications for gene: SLC52A2 were set to 30377535 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.12 | SLC52A2 | Achchuthan Shanmugasundram Classified gene: SLC52A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.12 | SLC52A2 | Achchuthan Shanmugasundram Gene: slc52a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.11 | SLC52A2 | Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 22864630, 23243084, 24253200, 30343981, 30377535, 31868069, 32909658, 35608644, 36186484; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Cerebellar ataxia, MONDO:0000437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 30377535 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Review for gene: SLC52A2 was set to GREEN gene: SLC52A2 was marked as current diagnostic Added comment: Generally presents with a range of neuropathies but ataxia described. Treatable condition. Sources: Expert list |
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